ESPE Abstracts

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

Background: Accurate and differential diagnosis of preococious puberty (PP) have some important challenges. Many parameters have used to diagnose pubertal diseases so far. However LH-RH stimulation test is considered as a gold standard procedure, ıt has some difficulties in practise.Objective: We aimed to set a newly proposed clinical and laboratory finding-based diagnostic scoring in the differential diagnosis of preoccious puberty and premature te...

Introduction: GnRH analogues common used in precocious puberty are highly effective agents. The drug dose and injection frequency should be designed for each case. However these agents are common well tolerated, some rare adverse effects may be occur. We present a case of frequent leuprolid acetate injections-related sterile abscess.Case: The case was 16-month-old boy. He had rapid growth, big penis, and excessive pubic hair. These symptoms have appeared...

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...